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episodic ataxia type 1
Summary
- Definition
- An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.
- Super Class
- episodic ataxia
External Links
- Disease Ontology
- DOID:0050989
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00443 | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | |
| P22303 | Acetylcholinesterase | |
| Q02246 | Contactin-2 |
